Author:

Giovanni Boniolo

Abstract

The ethic and existential impact of presymptomatic cancer tests on individuals and on their choices are analysed. Moreover, the issues of the right (not) to know and (not) to treat are considered inside the framework of the ethical counselling.

Why critical thinking?

Three instructive cases

The presymptomatic cancer tests are performed on an individual who does not show symptoms of the neoplastic disorder, but who could be at risk of developing cancer. If a form of prevention or adequate therapies were available, presymptomatic tests would be beneficial to improve the quality of clinical management of the disease (e.g. reduce morbidity and mortality). If, however, such therapeutic or preventive options were not present, this type of test could provide useful information to plan life affairs (e.g. reproductive choices). In any case, the presymptomatic cancer tests impose individual decisions on what to do, and these are ethical-existential ones. Let us consider three cases that cover three different situations.

Case 1: The test is performed, and the individual should decide what to do

On May 14th, 2013, the actress Angelina Jolie shared the news of her bilateral risk-reducing mastectomy, based on her BRCA1 pathogenic variant status, which she knew after a presymptomatic cancer test. She explained her decision since “My doctors estimated that I had an 87 percent risk of breast cancer and a 50 percent risk of ovarian cancer” (NYTimes 2013).

Along the same line, on December 8th, 2022, the model Bianca Balti underwent a preventative double mastectomy when she discovered, after a presymptomatic cancer test, that she was a carrier for the BRCA1 gene. “I wasn’t sick, yet – she reported - but I knew the chances were much higher that I would be one day. And I now had the free will to do something about it” (Vogue 2024; also Survivornet 2024).

Jane knows the stories of Jolie and Balti and that her genetic test for BRCA mutation is positive. What to do? To follow Jolie and Balti’s example and undergo preventive mastectomy and reconstruction, or to decide on active surveillance and chemoprevention? Jane’s problem and decision are not simply clinical but ethical-existential, and the medical knowledge can be of little help (Borzekowski et al. 2014; Juthe et al. 2015; Basu et al. 2021).

Case 2: The test is not performed, and the individual should decide whether to do so

Veronica, 45, is married with two children. Her friend Sara just got a positive result from her mammogram and the following biopsy confirmed a breast cancer for which she underwent surgery and chemotherapy facing severe side effects. Veronica, knowing also the cancer history in her family, asks her doctor whether she could go for presymptomatic cancer tests. The physician points out the potential benefits and harms of breast cancer tests by presenting her with statistical data on mortality reduction, the probability of false-positive results, and overdiagnosis, combined with the patient’s anamnesis and the absence of signs or symptoms. Veronica is facing a decisional problem. On the one hand, she is worried about possible life-threatening conditions, and she wants to be sure everything is fine even though she is asymptomatic. On the other hand, Veronica is very touchy and sensitive about medical procedures, and she is worried about undertaking useless and potentially harmful medical practices. What should she do? This is not a clinical decision only, but an ethical-existential decision, and the medical knowledge can be of little help.

Case 3: The test could be performed on the children

Mary has received a call from her sister, Alina. Alina is 38. At the age of 25, she was diagnosed with breast cancer, but thanks to the early diagnosis and good response to treatment, she recovered. There is a known history of cancer in Mary and Alina’s family: their father died of colon cancer, their paternal aunt had breast cancer, and two of their cousins also developed tumors. Mary and Alina decided to consult with a medical geneticist, who suggested testing for the TP53 mutation. Both of them have positive results. This particular germline mutation is associated with the Li-Fraumeni syndrome, which indicates an increased risk (up to 85%) of developing tumors (such as bone and soft-tissue sarcoma, premenopausal breast carcinoma, leukemia, brain cancer, and adrenocortical carcinoma) in early adulthood, but sometimes also during childhood.

Alina does not have children, but Mary has two (5 and 3 years old) and she knows that Johnny, her husband and the father of her children, does not have any history of cancer in his family. This is relevant since the TP53 mutation, being a dominant autosomal disease, implies that there is 50% chance that each of her children inherited the TP53 mutation from her. Alina suggests Mary testing her children for the TP53 mutation. Mary is scared and puzzled: why should she do so? She finds it very hard to make up her mind: she wants to protect her children from having to face cancer but is not sure whether undergoing the test is the right thing to do. Should she ask for testing her children? And if the test were positive, what should she do? Should she communicate the results to the children? If so, when and how should she do so?

Preliminary considerations

Before passing to Jane, Veronica, and Mary’s problematic decisions. It is worth recalling two points. The first deals with the patient’s right to know and the oncologist’s duty to inform. In all of the three cases, the duty to inform is satisfied with proper genetic counselling during which the genetic situation is explained, the potential therapeutic cure is told, and the prognosis is clarified. Here, most important it is to make the non-symptomatic individual aware if an effective and definitive chemotherapy and/or surgery were available or if the potential cancer had a lethal prognosis. This positive or negative potentiality should be inserted in a discussion concerning both the quality of life during the treatment and after it and what the x% of the probability of having cancer and the (100 -x)% of not having it mean.

The oncologist’s duty to inform should depend on the individual’s right to know. The right to know means also the right not to know. This has been the focus of much ethical analysis in the last decades. Yet, the recent expansion in the availability of genetic technologies for diagnostic and prognostic purposes has provided the case of information waivers with renewed ethical interest. Both international guidelines and bioethics scholars often assume that the right not to know should be respected. Usually, this position is justified by the idea of patient’s autonomy and by considerations of welfare for the patient; namely, the fact that some kinds of information may potentially harm psychologically the individual without producing any particular benefit, and therefore it is in his/her best interest to waive such knowledge (Ost 1984; Andorno 2004).

Julie could decide not to follow Jolie and Balti’s solution and thus not undergo a presymptomatic cancer test. The same could be done by Veronica, even if, given her family history, her refusal could have a greater and dangerous impact on her future quality of life. More complex is Mary’s case since, on the one hand, there are international guidelines that do not suggest testing children, and on the other hand, she could decide not to know her children’s genetic landscape but also not to inform them (she has not the duty to inform). Let us note that the children are also prospective stakeholders of the right not to know their genetic condition. This particular case is an example of how the right not to know may assume less cogency when third parties are involved, and in particular when children are the subjects potentially affected by the information to be waived.

Coming to the international statements, it is worth recalling the European Convention on Human Rights and Biomedicine. It states that “Everyone is entitled to know any information collected about his or her health. However, the wishes of individuals not to be so informed shall be observed” (CE 1997, art. 10.2). Thus, according to the Convention, the individual right to know goes hand in hand with her right not to know, which is justified by personal reasons that should not be in general subject to the scrutiny of healthcare authorities: “Patients may have their own reasons for not wishing to know about certain aspects of their health. A wish of this kind must be observed” (CEr 1997). ^[1]

Nevertheless, the Convention identifies also the need to draw a limit for the exercise of the right not to know. As stated, “In exceptional cases, restrictions may be placed by law on the exercise of the rights contained in [article 10.2] in the interests of the patient.” (CE 1997 art. 10.3) But which are the “exceptional cases”? The Explanatory Report of the European Convention identifies two criteria for not respecting individual right not to know: i. when the restrictions are in the interests of patients’ health, such as in cases of therapeutic necessity or in cases where the knowledge at stake may be the only way to enable them to take potentially effective (preventive or therapeutic) measures; ii. when “certain facts concerning the health of a person who has expressed a wish not to be told about them may be of special interest to a third party”. In such cases, the interests of the third party should warrant his/her right to know taking precedence over the patient's right not to know.

Beyond the question concerning the right to know and the right not to know, there is the issue of the right to refuse treatment (NCBI 2023). Jane and Veronica could decide to know but to refuse any kind of preventive surgery or chemotherapy.

As in the case of the right (not) to know, the right to refuse treatment is founded upon one of the basic ethical principles of medicine: autonomy. Of course, in any situation, the treatment refusal must go parallelly with the acknowledgment of the patient's capacity to refuse (Leo 1999; Buchanan 2004; Navin et al. 2021)

Individual decisions and ethical counseling

These are just some paradigmatic cases in which patients must navigate not only between clinical but also between ethical-existential options. Not every clinical decision raises relevant ethical questions. However, as in the case of presymptomatic cancer tests, before opting for a clinical choice, the ethical-existential one should be solved. The complexity of all these and similar cases, touching those who have been called patients in waiting, ^[2] stems from the fact that each of them raises two kinds of interrelated yet distinct questions: on the one hand, there are the questions concerning the clinical side, on the other hand, there are those concerning individual values, spiritual beliefs, moral sensitivity, and ethical perspectives. This collection of values and beliefs constitute the core elements of the individual’s Personal Philosophy, that is, that wide set of more or less deep, coherent, and justified metaphysical, methodological, religious, political, esthetical, ethical, etc., beliefs, assumptions, principles, and values that an individual possesses and that characterizes uniquely how he/she approaches world and life.

Is this almost always unaware, and unstructured Personal Philosophy enough to decide?

In the cases above (and in similar cases), there immediately appear to be two types of risk. There is a risk for the individual to fall into a sort of decisional paralysis from which he/she is not able to escape even by referring to his/her Personal Philosophy. There is a risk for the physician to underestimate the patient’s problem and try to solve it based on his/her own Personal Philosophy, ^[3] thus imposing his /her values and beliefs on the patient and thus falling into moral paternalism, or thinking that his/her own moral bon sense is enough. Yet moral paternalism should be judged negatively, as any form of paternalism since it goes against the patient’s autonomy. Instead, moral bon sense is not moral, indeed sometimes it is immoral. As a patient does not go to be treated for heart disease by someone with a "cardiological bon sense" but by an expert cardiologist, it is not clear why one should rely on someone’s moral bon sense when serious ethical-existential problems are on the table.

To deal with these situations, in many European and American hospitals, especially in oncological hospitals, a service of Ethics Consulting for patients and clinicians has been implemented (cfr. Aulisio et al. 2000; Molewijk, Widdershoven 2007; Jonsen et al. 2010; Gaucher N et al. 2013; Boniolo, Sanchini 2016). Ethical Counselling is a dialogic activity implementable in the cases in which clinical decisions presuppose ethical-existential decisions. It has two different purposes. On the one hand, by clarifying and investigating patients’ Personal Philosophy, the counselor assists them (with or without their relatives) in understanding the principles from which they judge, the consequences of their actions, the tradition in which they live, and the rights (e.g. the right non to know and the right to refuse treatment) they have. On the other hand, it trains clinicians to properly examine the ethical problematic situation their patients are facing, to go beyond their moral bon sense, and to avoid the dangerous conviction that their own Personal Philosophy is better than patients’, that is, to avoid moral paternalism.

In particular:

• Ethical Counselling is not a form of psychological support, even if, being directed toward patients’ beliefs, it might cross with some psychological aspects.
• Ethical Counselling is not aimed at providing solutions to ethical-existential conundrums. Rather, it is a help both to untangle patients’ Personal Philosophies and to make physicians understand them.
• Ethical Counselling is not a mandatory tool that should be imposed on patients. Differently, some nudges to undergo an ethical counseling process seem to be necessary for clinicians since, as said, an intuitive moral understanding does not prove to be enough in cases involving patients’ ethical-existential problematic situations.

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